HEMATOCASE

Clinical importance of screening for the neglected acquired von Willebrand syndrome in patients with myeloproliferative neoplasms: A case series

SUMMARY

Introduction: Acquired von Willebrand syndrome (AVWS) is an underestimated bleeding disorder characterised by either a shortage or dysfunctional von Willebrand factor (VWF) and mostly associated with several cardiac, autoimmune and hematologic disorders, including myeloproliferative neoplasms (MPNs).

Case series: We describe three patients with MPN (i.e., two with essential thrombocytosis and one with secondary myelofibrosis from polycythaemia vera) of which one experienced unexpected bleeding after bone marrow puncture. Laboratory investigation showed normal-to-high VWF:Ag levels with a disproportional decrease in VWF activity in all three patients. These results represent a qualitative VWF defect due to secondary AVWS.

Conclusion: Although thrombotic events are a frequent complication found in MPN patients, unexplained and potentially severe bleedings are a not uncommon observation. In the latter situation, AVWS should always be excluded, minimally by determination of VWF:Ag and VWF activity (e.g., VWF:RCo and VWF:CB). MPN-patients with AVWS may benefit from additional prevention against bleeding.

(BELG J HEMATOL 2025;16(3):130–4)

Unveiling cytokine profiles: HLH induced by the combination of cemiplimab and venetoclax

SUMMARY

This case provides the first in vivo evidence suggesting a possible synergistic effect between venetoclax and ICIs, potentially triggering haemophagocytic lymphohistiocytosis (HLH). This underscores the importance of vigilance and tailored management in the era of evolving cancer therapies to mitigate potentially life-threatening complications. HLH management often relies on expert opinion and limited case reports. This case contributes valuable clinical insights that may inform future treatment approaches.

(BELG J HEMATOL 2025;16(3):125–9)

Severe ADAMTS13 deficit with a thrombotic thrombocytopenic purpura in a case of inaugural systemic lupus erythematosus with antiphospholipid syndrome

SUMMARY

ADAMTS13, an important enzyme in the regulation of von Willebrand factor, may be deficient, leading to a thrombotic thrombocytopenic purpura, a subtype of thrombotic microangiopathy causing thrombocytopenia, organ failure and haemolytic anaemia. This condition may also be associated with antiphospholipid syndrome and/or systemic lupus erythematosus. We report a case of ischaemic neurological lesions due to an inaugural systemic lupus erythematosus and antiphospholipid syndrome, with the demonstration of a decreased ADAMTS13 activity without biological signs of thrombotic microangiopathy, associated with a possible COVID-19 trigger.

(BELG J HEMATOL 2025;16(2):70–7)

An unwanted Mediterranean souvenir: Pancytopenia due to visceral leishmaniasis

SUMMARY

We report the case of a 32-year-old female patient who was sent to the emergency department because of nocturnal fever, night sweats, pancytopenia and an elevated CRP. Clinical examination showed a pale patient with a splenomegaly of 17.6 cm. Standard blood tests for infectious diseases remained negative. Travel history revealed a trip to Spain seven months ago. Leishmania serology on blood and polymerase chain reaction (PCR) on bone marrow were found positive. The diagnosis of visceral leishmaniasis was made and the patient was treated with intravenous amphotericin B, with a rapid clinical and biochemical recovery. Leishmaniasis is a (sub)tropical, vector-borne disease caused by intracellular protozoan parasites, spread by sand-flies. Visceral leishmaniasis is the most severe form and presents in a nonspecific way. This case illustrates the importance of a good work-up of pancytopenia, a relatively frequent medical condition with multiple causes. The possibility of visceral leishmaniasis should not be forgotten, especially in case of a suggestive travel history.

(BELG J HEMATOL 2024;15(8):329–32)

Diagnosis of a T-cell prolymphocytic leukaemia in a 78-year-old asymptomatic patient

SUMMARY

This case report outlines the diagnosis and management of T-cell prolymphocytic leukaemia (T-PLL) in a 78-year-old asymptomatic woman. The leukaemia rapidly progressed within five months, leading to a hyperleukocytosis of 305 × 10⁹/L and thrombopenia suggestive for bone marrow involvement. Diagnostic assessments included peripheral blood analysis, immunophenotyping, cytogenetics and molecular analysis according to the unified diagnostic criteria of the T-PLL International Study Group (T-PLL-ISG). Bendamustine treatment was initiated resulting in a significant decrease in leucocytosis. In the past nine months, the patient has received six cycles of bendamustine and has remained asymptomatic to date.

(BELG J HEMATOL 2024;15(8):325–8)

Light chains amyloidosis: Case report with special focus on cardiac involvement and literature survey

SUMMARY

The authors report the case of a patient suffering from cardiac amyloidosis with hepatic involvement. A prolonged remission was obtained under chemoimmunotherapy with CyBorD association (cyclophosphamide, bortezomib, and dexamethasone) and daratumumab. A literature survey is performed and presented.

(BELG J HEMATOL 2024;15(7):281–5)

Drug-induced agranulocytosis in mixed connective tissue disease: A case report

SUMMARY

Interplay between drug-induced agranulocytosis (DIA) and autoimmune disease is widely suggested in literature. However, cases of DIA in mixed connective tissue disease (MCTD) are yet to be reported. A 49-year-old woman taking terbinafine presented with acute fever, parotitis and pericarditis. Laboratory analysis revealed severe inflammation (CRP 434 mg/L) with agranulocytosis, rapidly recovering after terbinafine discontinuation. Furthermore, arthralgias, Raynaud’s phenomenon, scleroderma and anti-U1-RNP positivity confirmed underlying MCTD. This is the first reported case of DIA in an MCTD patient. The slim chance of this co-occurrence and the atypical presentation raise the tantalising question of whether an interaction exists.

(BELG J HEMATOL 2024;15(6):246-8)